Article

The Genetic Basis of Galactosemia in Iranian Patients: Identification of Twenty Novel Mutations in GALT, GALK1 and GALE Gene

2023-06-26

Abstract excerpt

<h4>Introduction: </h4> Galactosemia is a metabolic disorders that affects newborns. The enzyme deficiency of GALT, GALK and GALE are implicated with galactose metabolic disorders. The aim of this study is identify the profile mutations of GALT , GALK1 and GALE gene in the Iranian patients with galactosemia. <h4>Method: </h4> and materials: In this study, 93 patients who have the diagnosis of galactosemia were in...

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Literature Corpus work: 63a5cd1b-6e12-50c2-a76a-16af5cb159d1
DOI: 10.21203/rs.3.rs-3093450/v1

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